{"symbol":"DGCR2","synonyms":["SEZ-12","DGS-C","LAN"],"name":"DiGeorge syndrome critical region gene 2","description":"Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]","ncbiEntrezGeneId":9993,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/9993","proteins":[{"symbol":"IDD_HUMAN","href":"/api/1.0/protein/IDD_HUMAN"}],"hgncRootFamilies":[]}